chromosome 3q13.31 deletion syndrome (DOID:0060418)
Alliance: disease page
Synonyms: 3q13 microdeletion syndrome; monosomy 3q13
Alt IDs: OMIM:615433, MESH:C536808, ORDO:1621, UMLS_CUI:C2931338
Definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.